SNP Links for Gene (Select 1517) - SNP

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Select item 14915149241.

rs1491514924 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:47585263 (GRCh38)
10:48154098 (GRCh37)
Canonical SPDI:: NC_000010.11:47585262:CA:
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
-=0.00036/9 (TOMMO)
HGVS:: NC_000010.11:g.47585263_47585264del, NW_003871068.1:g.1856378_1856379del, NC_000010.10:g.48154098_48154099del

Select item 14914660512.

rs1491466051 has merged into rs1177674531 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:47585277 (GRCh38)
10:48154084 (GRCh37)
Canonical SPDI:: NC_000010.11:47585263:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:47585263:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:47585263:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:47585263:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:47585263:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:47585263:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:47585263:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:47585263:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:47585263:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:47585263:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:47585263:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:47585263:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:47585263:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:47585263:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:47585263:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:47585263:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:47585263:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:47585263:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:47585263:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:47585263:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:47585263:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:47585263:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:47585263:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:47585263:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:47585263:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:47585263:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:47585263:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:47585263:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:47585263:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:47585263:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.47585277_47585291del, NC_000010.11:g.47585278_47585291del, NC_000010.11:g.47585279_47585291del, NC_000010.11:g.47585280_47585291del, NC_000010.11:g.47585282_47585291del, NC_000010.11:g.47585283_47585291del, NC_000010.11:g.47585284_47585291del, NC_000010.11:g.47585286_47585291del, NC_000010.11:g.47585288_47585291del, NC_000010.11:g.47585289_47585291del, NC_000010.11:g.47585290_47585291del, NC_000010.11:g.47585291del, NC_000010.11:g.47585291dup, NC_000010.11:g.47585290_47585291dup, NC_000010.11:g.47585289_47585291dup, NC_000010.11:g.47585288_47585291dup, NC_000010.11:g.47585287_47585291dup, NC_000010.11:g.47585286_47585291dup, NC_000010.11:g.47585285_47585291dup, NC_000010.11:g.47585284_47585291dup, NC_000010.11:g.47585283_47585291dup, NC_000010.11:g.47585282_47585291dup, NC_000010.11:g.47585281_47585291dup, NC_000010.11:g.47585280_47585291dup, NC_000010.11:g.47585279_47585291dup, NC_000010.11:g.47585278_47585291dup, NC_000010.11:g.47585277_47585291dup, NC_000010.11:g.47585275_47585291dup, NC_000010.11:g.47585272_47585291dup, NC_000010.11:g.47585271_47585291dup, NW_003871068.1:g.1856392_1856406del, NW_003871068.1:g.1856393_1856406del, NW_003871068.1:g.1856394_1856406del, NW_003871068.1:g.1856395_1856406del, NW_003871068.1:g.1856397_1856406del, NW_003871068.1:g.1856398_1856406del, NW_003871068.1:g.1856399_1856406del, NW_003871068.1:g.1856401_1856406del, NW_003871068.1:g.1856403_1856406del, NW_003871068.1:g.1856404_1856406del, NW_003871068.1:g.1856405_1856406del, NW_003871068.1:g.1856406del, NW_003871068.1:g.1856406dup, NW_003871068.1:g.1856405_1856406dup, NW_003871068.1:g.1856404_1856406dup, NW_003871068.1:g.1856403_1856406dup, NW_003871068.1:g.1856402_1856406dup, NW_003871068.1:g.1856401_1856406dup, NW_003871068.1:g.1856400_1856406dup, NW_003871068.1:g.1856399_1856406dup, NW_003871068.1:g.1856398_1856406dup, NW_003871068.1:g.1856397_1856406dup, NW_003871068.1:g.1856396_1856406dup, NW_003871068.1:g.1856395_1856406dup, NW_003871068.1:g.1856394_1856406dup, NW_003871068.1:g.1856393_1856406dup, NW_003871068.1:g.1856392_1856406dup, NW_003871068.1:g.1856390_1856406dup, NW_003871068.1:g.1856387_1856406dup, NW_003871068.1:g.1856386_1856406dup, NC_000010.10:g.48154084_48154098del, NC_000010.10:g.48154085_48154098del, NC_000010.10:g.48154086_48154098del, NC_000010.10:g.48154087_48154098del, NC_000010.10:g.48154089_48154098del, NC_000010.10:g.48154090_48154098del, NC_000010.10:g.48154091_48154098del, NC_000010.10:g.48154093_48154098del, NC_000010.10:g.48154095_48154098del, NC_000010.10:g.48154096_48154098del, NC_000010.10:g.48154097_48154098del, NC_000010.10:g.48154098del, NC_000010.10:g.48154098dup, NC_000010.10:g.48154097_48154098dup, NC_000010.10:g.48154096_48154098dup, NC_000010.10:g.48154095_48154098dup, NC_000010.10:g.48154094_48154098dup, NC_000010.10:g.48154093_48154098dup, NC_000010.10:g.48154092_48154098dup, NC_000010.10:g.48154091_48154098dup, NC_000010.10:g.48154090_48154098dup, NC_000010.10:g.48154089_48154098dup, NC_000010.10:g.48154088_48154098dup, NC_000010.10:g.48154087_48154098dup, NC_000010.10:g.48154086_48154098dup, NC_000010.10:g.48154085_48154098dup, NC_000010.10:g.48154084_48154098dup, NC_000010.10:g.48154082_48154098dup, NC_000010.10:g.48154079_48154098dup, NC_000010.10:g.48154078_48154098dup

Select item 14909934213.

rs1490993421 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:47584104 (GRCh38)
10:48155258 (GRCh37)
Canonical SPDI:: NC_000010.11:47584103:G:A
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.019125/354 (ALFA)
A=0.012648/81 (1000Genomes)
A=0.018818/2545 (GnomAD)
A=0.020076/5314 (TOPMED)
C=0.5/3 (SGDP_PRJ)
HGVS:: NC_000010.11:g.47584104G>A, NW_003871068.1:g.1855219G>A, NC_000010.10:g.48155258C>T

Select item 14909371234.

rs1490937123 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 10:47585095 (GRCh38)
10:48154267 (GRCh37)
Canonical SPDI:: NC_000010.11:47585094:A:C,NC_000010.11:47585094:A:T
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
C=0.000023/3 (GnomAD)
HGVS:: NC_000010.11:g.47585095A>C, NC_000010.11:g.47585095A>T, NW_003871068.1:g.1856210A>C, NW_003871068.1:g.1856210A>T, NC_000010.10:g.48154267T>G, NC_000010.10:g.48154267T>A

Select item 14905025905.

rs1490502590 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:47584432 (GRCh38)
10:48154930 (GRCh37)
Canonical SPDI:: NC_000010.11:47584431:G:A
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000010.11:g.47584432G>A, NW_003871068.1:g.1855547G>A, NC_000010.10:g.48154930C>T

Select item 14904467126.

rs1490446712 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:47585343 (GRCh38)
10:48154019 (GRCh37)
Canonical SPDI:: NC_000010.11:47585342:G:T
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/1 (GnomAD)
HGVS:: NC_000010.11:g.47585343G>T, NW_003871068.1:g.1856458G>T, NC_000010.10:g.48154019C>A

Select item 14901746517.

rs1490174651 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCTTTTCCCT>- [Show Flanks]
Chromosome:: 10:47583725 (GRCh38)
10:48155632 (GRCh37)
Canonical SPDI:: NC_000010.11:47583720:CCCTGCTTTTCCCT:CCCT
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.47583725_47583734del, NW_003871068.1:g.1854840_1854849del, NC_000010.10:g.48155632_48155641del

Select item 14901186688.

rs1490118668 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:47584607 (GRCh38)
10:48154755 (GRCh37)
Canonical SPDI:: NC_000010.11:47584606:A:T
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.47584607A>T, NW_003871068.1:g.1855722A>T, NC_000010.10:g.48154755T>A

Select item 14889869629.

rs1488986962 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:47582287 (GRCh38)
10:48157075 (GRCh37)
Canonical SPDI:: NC_000010.11:47582286:A:G
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000546/1 (Korea1K)
HGVS:: NC_000010.11:g.47582287A>G, NW_003871068.1:g.1853402A>G, NC_000010.10:g.48157075T>C, NR_033407.1:n.206T>C

Select item 148892719310.

rs1488927193 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:47583415 (GRCh38)
10:48155947 (GRCh37)
Canonical SPDI:: NC_000010.11:47583414:C:T
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.02723/323 (ALFA)
T=0.01312/84 (1000Genomes)
T=0.02412/1156 (GnomAD)
HGVS:: NC_000010.11:g.47583415C>T, NW_003871068.1:g.1854530C>T, NC_000010.10:g.48155947G>A, NR_033407.1:n.5G>A

Select item 148873400211.

rs1488734002 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:47583630 (GRCh38)
10:48155732 (GRCh37)
Canonical SPDI:: NC_000010.11:47583629:G:C
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.006829/81 (ALFA)
C=0.002689/328 (GnomAD)
HGVS:: NC_000010.11:g.47583630G>C, NW_003871068.1:g.1854745G>C, NC_000010.10:g.48155732C>G

Select item 148827429712.

rs1488274297 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 10:47582290 (GRCh38)
10:48157072 (GRCh37)
Canonical SPDI:: NC_000010.11:47582289:A:C,NC_000010.11:47582289:A:G
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.003665/43 (ALFA)
T=0./0 (SGDP_PRJ)
G=0.000009/1 (GnomAD)
C=0.017166/485 (TOMMO)
HGVS:: NC_000010.11:g.47582290A>C, NC_000010.11:g.47582290A>G, NW_003871068.1:g.1853405A>C, NW_003871068.1:g.1853405A>G, NC_000010.10:g.48157072T>G, NC_000010.10:g.48157072T>C, NR_033407.1:n.203T>G, NR_033407.1:n.203T>C

Select item 148734954613.

rs1487349546 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:47581828 (GRCh38)
10:48157534 (GRCh37)
Canonical SPDI:: NC_000010.11:47581827:A:G
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000010.11:g.47581828A>G, NW_003871068.1:g.1852943A>G, NC_000010.10:g.48157534T>C

Select item 148728881714.

rs1487288817 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:47582736 (GRCh38)
10:48156626 (GRCh37)
Canonical SPDI:: NC_000010.11:47582735:T:G
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000010.11:g.47582736T>G, NW_003871068.1:g.1853851T>G, NC_000010.10:g.48156626A>C

Select item 148681288815.

rs1486812888 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:47580285 (GRCh38)
10:48159077 (GRCh37)
Canonical SPDI:: NC_000010.11:47580284:A:G
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000283/8 (TOMMO)
HGVS:: NC_000010.11:g.47580285A>G, NW_003871068.1:g.1851400A>G, NC_000010.10:g.48159077T>C

Select item 148670119016.

rs1486701190 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:47581025 (GRCh38)
10:48158337 (GRCh37)
Canonical SPDI:: NC_000010.11:47581024:G:A
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0./0 (SGDP_PRJ)
A=0.000008/2 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000010.11:g.47581025G>A, NW_003871068.1:g.1852140G>A, NC_000010.10:g.48158337C>T, NR_033407.1:n.751C>T

Select item 148667171317.

rs1486671713 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:47581374 (GRCh38)
10:48157988 (GRCh37)
Canonical SPDI:: NC_000010.11:47581373:A:G
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.47581374A>G, NW_003871068.1:g.1852489A>G, NC_000010.10:g.48157988T>C

Select item 148663949218.

rs1486639492 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:47581847 (GRCh38)
10:48157515 (GRCh37)
Canonical SPDI:: NC_000010.11:47581846:C:A,NC_000010.11:47581846:C:T
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000144/20 (GnomAD)
HGVS:: NC_000010.11:g.47581847C>A, NC_000010.11:g.47581847C>T, NW_003871068.1:g.1852962C>A, NW_003871068.1:g.1852962C>T, NC_000010.10:g.48157515G>T, NC_000010.10:g.48157515G>A

Select item 148628074119.

rs1486280741 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:47585153 (GRCh38)
10:48154209 (GRCh37)
Canonical SPDI:: NC_000010.11:47585152:C:T
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.47585153C>T, NW_003871068.1:g.1856268C>T, NC_000010.10:g.48154209G>A

Select item 148573827920.

rs1485738279 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:47583469 (GRCh38)
10:48155893 (GRCh37)
Canonical SPDI:: NC_000010.11:47583468:C:A
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000010.11:g.47583469C>A, NW_003871068.1:g.1854584C>A, NC_000010.10:g.48155893G>T

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